Canonical Allele Identifier: CA378842129

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135352313G>T (hg19) ; chr10:g.133538809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538809G>T , CM000672.2:g.133538809G>T	GRCh38
NC_000010.10:g.135352313G>T , CM000672.1:g.135352313G>T	GRCh37
NC_000010.9:g.135202303G>T	NCBI36
NG_008383.1:g.16447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1327G>T MANE Select	ENSP00000252945.3:p.Ala443Ser
ENST00000252945.7:c.1327G>T	ENSP00000252945.3:p.Ala443Ser
ENST00000368520.1:n.1358+917G>T
ENST00000418356.1:c.916G>T	ENSP00000397299.1:p.Ala306Ser
ENST00000421586.5:c.1066G>T	ENSP00000412754.1:p.Ala356Ser
ENST00000463117.6:c.1327G>T	ENSP00000440689.1:p.Ala443Ser
ENST00000469258.1:n.423G>T
ENST00000541080.5:c.743G>T
NM_000773.3:c.1327G>T	NP_000764.1:p.Ala443Ser
NM_000773.4:c.1327G>T MANE Select	NP_000764.1:p.Ala443Ser